BRAINMODEL
Precision medicine for brain disorders
A team of researchers from six Dutch knowledge institutions (including coordinator Vrije Universiteit Amsterdam) is introducing new research methods to improve treatment for developmental disorders of the brain, including STXBP1-related disorders. The scientific team will work together with societal partners, clinical associations and companies as the BRAINMODEL consortium and will implement new stem cell-based methods to improve diagnostics and therapy decisions and to develop new therapies. The Netherlands Organisation for Health Research and Development (ZonMw) has allocated a grant of 4 million euros for this work.
Patient inclusion: currently ongoing
Contact: brainmodel.gen@radboudumc.nl
Gait analysis of
Individuals with STXBP1-related disorders
At the University Hospital Antwerp, Belgium, prof. Sarah Weckhuysen and dr. Hannah Stamberger, together with prof. Ann Hallemans of the physiotherapy department, have started a study on motor problems including gait abnormalities in STXBP1-RD. They aim to characterize the nature and evolution of gait abnormalities and functional mobility in patients with STXBP1-RD in a semi-quantitative way, using Instrumented 3D gait analysis to produce measurable outcome parameters that can be useful for clinical follow-up and for potential future therapeutic trials. The study requires 2 study visits at the University Hospital in Antwerp, one at the Neurology department for a (video-recorded) semi-standardized clinical neurological examination, and one at the gait lab of the Hospital for a 3D gait analysis. Parents of participating patients are further requested to complete 2 questionnaires.
Patient inclusion possible until end of 2024.
Contact: Dr. Hannah Stamberger (https://weckhuysenlab.sites.vib.be/en)
